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目的为了解本地区产前筛查及产前诊断状况,给妇婴保健部门制定相应的预防对策提供参考。方法选择2008～2011年期间某院分娩的出生缺陷儿,共计1206例,回顾分析出出生缺陷儿产前筛查与产前诊断结果,对照分析不同区域未进行产前筛查者构成比。结果产前筛查阳性者占33.4%(403/1206),产前诊断阳性者占28.8%(347/1206),未进行产前筛查者占9.8%(118/1206)。中期畸形引产者占25.2%(304/1206)。产前诊断缺陷前5位者依次为:神经管缺陷、先天性心脏病、唇裂、染色体异常及足内翻。缺陷前5位者合计295例,缺陷构成比为85.1%。前5位者依次为:先天性心脏病364例(53.1%),外耳廓畸形79例(11.5%),唇裂75例(10.9%),隐睾62例(9.1%),多指(趾)49例(7.2%)。城镇未进行产前筛查者的构成比(1.4%)比农村的(15.4%)显著低(P﹤0.05)。结论为降低出生缺陷的发生率,产前筛查及产前诊断工作中应加强对四肢及五官处微小结构的探查,不能只关注筛查价值,而忽略产前诊断的重要性。
Objective To understand the status of prenatal screening and prenatal diagnosis in this area and provide references for maternal and child health departments to formulate appropriate preventive measures. Methods A total of 1206 children with birth defects were selected from 2008 to 2011 in our hospital. The prenatal screening and prenatal diagnosis were retrospectively analyzed. The proportions of prenatal screening in different regions were compared. Results Positive prenatal screening was 33.4% (403/1206), prenatal diagnosis was 28.8% (347/1206), and prenatal screening was 9.8% (118/1206). Mid-term deformity induced abortion accounted for 25.2% (304/1206). Prenatal diagnosis of defects in the top five were: neural tube defects, congenital heart disease, cleft lip, chromosomal abnormalities and varus. The first five defects were 295 cases in total, with a defect ratio of 85.1%. The top five were as follows: 364 cases (53.1%) of congenital heart disease, 79 cases (11.5%) of auricle deformity, 75 cases (10.9%) of cleft lip, 62 cases (cryptoprostheses) 9.1% 49 cases (7.2%). The constituent ratio (1.4%) in urban areas without prenatal screening was significantly lower (15.4%) than in rural areas (P <0.05). Conclusion In order to reduce the incidence of birth defects, prenatal screening and prenatal diagnosis should be strengthened on the detection of limbs and small organs at the minutiae structure, not only focus on the value of screening, while ignoring the importance of prenatal diagnosis.